Contents

Search

muscular dystrophy type 1D (MDC1D)

Pathology: - skeletal muscle biopsy a) dystrophic changes b) reduced immunolabeling of alpha-dystroglycan Genetics: 1) autosomal recessive 2) associated with defects in the LARGE1 gene Clinical manifestations: 1) presents in infancy 2) muscle weakness 3) contractures 4) structural brain defects, with or without mental retardation Radiology: - magnetic resononce imaging, brain - white matter changes & subtle structural abnormalities

Related

acetylglucosaminyltransferase-like protein LARGE; acetylglucosaminyltransferase-like 1A (LARGE, LARGE1, KIAA0609)

General

muscular dystrophy

Database Correlations

OMIM 608840 UniProt O95461

References

  1. UniProt :accession O95461
  2. OMIM :accession 608840